ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.1860C>T (p.His620=) (rs147734401)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000358488 SCV000477228 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000440342 SCV000521921 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000552204 SCV000652027 benign Charcot-Marie-Tooth disease type 2P 2019-12-31 criteria provided, single submitter clinical testing

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